Journal article
Follow-up of a child with hypoacetylaspartia.
- Boltshauser E Department of Neurology, University Children's Hospital, Zurich, Switzerland. eugen.boltshauser@kispi.unizh.ch
- Schmitt B
- Wevers RA
- Engelke U
- Burlina AB
- Burlina AP
- 2004-08-26
Published in:
- Neuropediatrics. - 2004
Amino Acid Metabolism, Inborn Errors
Aspartic Acid
Brain
Developmental Disabilities
Follow-Up Studies
Humans
Infant
Male
Status Epilepticus
English
We provide a 5-year follow-up of a patient previously reported to have no NAA signal on neurospectroscopy. At 8 years this boy was found to have profound neurological dysfunction: he had truncal ataxia, no expressive speech, behaviour abnormalities, secondary microcephaly and cognitive achievements corresponding to less than 12 months of age. He started to have generalized seizures at 5 years 9 months. Although not directly proven we assume an inborn error of NAA metabolism, possibly a defect of the anabolic enzyme L-aspartate N-acetyltransferase (EC 2.3.1.17).
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1055/s-2004-821036
- PMID 15328569
- Persistent URL
- https://sonar.ch/global/documents/75059
Statistics
Document views: 10
File downloads: